RT Journal Article
SR Electronic
T1 Signatures Of Tspan8 Variants Associated With Human Metabolic Regulation And Diseases
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 2020.11.17.386839
DO 10.1101/2020.11.17.386839
A1 Tisham De
A1 Angela Goncalves
A1 Doug Speed
A1 Phillipe Froguel
A1 NFBC consortium
A1 Daniel Gaffney
A1 Michael R. Johnson
A1 Maarjo-Riitta Jarvelin
A1 Lachlan JM Coin
YR 2020
UL http://biorxiv.org/content/early/2020/11/19/2020.11.17.386839.abstract
AB Here, with the example of common copy number variation (CNV) in the TSPAN8 gene, we present an important piece of work in the field of CNV detection, CNV association with complex human traits such as 1H NMR metabolomic phenotypes and an example of functional characterization of CNVs among human induced pluripotent stem cells (HipSci). We report TSPAN8 exon 11 as a new locus associated with metabolomic regulation and show that its biology is associated with several metabolic diseases such as type 2 diabetes (T2D), obesity and cancer. Our results further demonstrate the power of multivariate association models over univariate methods and define new metabolomic signatures for several new genomic loci, which can act as a catalyst for new diagnostics and therapeutic approaches.Competing Interest StatementThe authors have declared no competing interest.